Recombinant Human RP2 protein

RP2 recombinant protein is derived from the RP2 gene, which encodes a protein implicated in X-linked retinitis pigmentosa (XLRP), a severe inherited retinal degenerative disorder. The RP2 gene, located on the X chromosome (Xp11.3-p11.23), is ubiquitously expressed but plays a critical role in maintaining retinal photoreceptor cells. Mutations in RP2 account for approximately 10-20% of XLRP cases, characterized by progressive vision loss due to photoreceptor apoptosis. The RP2 protein is involved in membrane trafficking, ciliogenesis, and microtubule dynamics, interacting with proteins like ARL3 (ADP-ribosylation factor-like 3) to regulate lipid-modified protein trafficking in photoreceptors. Its dysfunction disrupts protein localization to the photoreceptor outer segment, impairing light signal transduction.

Recombinant RP2 protein is engineered using heterologous expression systems (e.g., E. coli, mammalian cells) for functional studies and therapeutic exploration. Researchers utilize it to investigate RP2’s molecular mechanisms, including its role in ciliary function and interactions with neurodegenerative disease-related pathways. It also serves as a tool for screening small molecules or gene therapies aimed at rescuing pathogenic mutations. Structural studies of recombinant RP2 have revealed insights into its N-terminal tubulin-binding domain and C-terminal lipid-binding region, aiding the design of targeted interventions. Current research focuses on RP2’s involvement in non-syndromic retinal degeneration and potential cross-talk with other ciliopathy-associated proteins. Challenges remain in fully elucidating its pleiotropic functions and translating findings into clinical applications, but recombinant RP2 remains pivotal for advancing XLRP diagnostics and treatment strategies.